NM_001128178.3(NPHP1):c.771+59G>A
|
rs143174377
|
0.00203
|
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His)
|
rs140446520
|
0.00127
|
NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr)
|
rs114250691
|
0.00121
|
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile)
|
rs140469160
|
0.00088
|
NM_001128178.3(NPHP1):c.801G>A (p.Thr267=)
|
rs141763330
|
0.00039
|
NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys)
|
rs149887461
|
0.00033
|
NM_001128178.3(NPHP1):c.43C>A (p.Arg15Ser)
|
rs373915635
|
0.00029
|
NM_001128178.3(NPHP1):c.336G>A (p.Gly112=)
|
rs144217506
|
0.00021
|
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=)
|
rs371112962
|
0.00019
|
NM_001128178.3(NPHP1):c.2007G>A (p.Leu669=)
|
rs151120697
|
0.00018
|
NM_001128178.3(NPHP1):c.771+33G>A
|
rs751388694
|
0.00017
|
NM_001128178.3(NPHP1):c.1913A>G (p.Gln638Arg)
|
rs186950965
|
0.00014
|
NM_001128178.3(NPHP1):c.1524A>G (p.Val508=)
|
rs146220435
|
0.00009
|
NM_001128178.3(NPHP1):c.156A>G (p.Leu52=)
|
rs759699517
|
0.00007
|
NM_001128178.3(NPHP1):c.1959C>T (p.Asp653=)
|
rs751440951
|
0.00006
|
NM_001128178.3(NPHP1):c.258T>C (p.His86=)
|
rs370355360
|
0.00006
|
NM_001128178.3(NPHP1):c.69+20A>G
|
rs199941495
|
0.00006
|
NM_001128178.3(NPHP1):c.772-13T>C
|
rs767813102
|
0.00006
|
NM_001128178.3(NPHP1):c.558T>G (p.Pro186=)
|
rs372637635
|
0.00005
|
NM_001128178.3(NPHP1):c.1353-9C>A
|
rs376436841
|
0.00004
|
NM_001128178.3(NPHP1):c.1531C>T (p.Leu511=)
|
rs567306113
|
0.00004
|
NM_001128178.3(NPHP1):c.772-11A>T
|
rs189649819
|
0.00004
|
NM_001128178.3(NPHP1):c.800C>T (p.Thr267Met)
|
rs141907218
|
0.00004
|
NM_001128178.3(NPHP1):c.912A>G (p.Gln304=)
|
rs794726975
|
0.00004
|
NM_001128178.3(NPHP1):c.1701G>C (p.Val567=)
|
rs200521790
|
0.00003
|
NM_001128178.3(NPHP1):c.1722G>A (p.Ser574=)
|
rs778531895
|
0.00003
|
NM_001128178.3(NPHP1):c.2010T>C (p.Gly670=)
|
rs759211123
|
0.00003
|
NM_001128178.3(NPHP1):c.330-4G>A
|
rs774162169
|
0.00003
|
NM_001128178.3(NPHP1):c.1083+7T>A
|
rs773132396
|
0.00002
|
NM_001128178.3(NPHP1):c.1269+8C>T
|
rs748875496
|
0.00002
|
NM_001128178.3(NPHP1):c.1434C>T (p.His478=)
|
rs148809478
|
0.00002
|
NM_001128178.3(NPHP1):c.1617A>G (p.Lys539=)
|
rs1266229950
|
0.00002
|
NM_001128178.3(NPHP1):c.329+10C>A
|
rs764482387
|
0.00002
|
NM_001128178.3(NPHP1):c.459C>T (p.Thr153=)
|
rs562594554
|
0.00002
|
NM_001128178.3(NPHP1):c.690G>A (p.Ala230=)
|
rs775869913
|
0.00002
|
NM_001128178.3(NPHP1):c.102A>G (p.Lys34=)
|
rs763004817
|
0.00001
|
NM_001128178.3(NPHP1):c.1083+20A>C
|
rs767659244
|
0.00001
|
NM_001128178.3(NPHP1):c.1270-20A>G
|
rs754198831
|
0.00001
|
NM_001128178.3(NPHP1):c.1392A>G (p.Glu464=)
|
rs369856527
|
0.00001
|
NM_001128178.3(NPHP1):c.1422C>T (p.Ser474=)
|
rs1160667484
|
0.00001
|
NM_001128178.3(NPHP1):c.1529+20T>G
|
rs1311670481
|
0.00001
|
NM_001128178.3(NPHP1):c.1545A>G (p.Thr515=)
|
rs1199701715
|
0.00001
|
NM_001128178.3(NPHP1):c.1643-8C>A
|
rs1328392742
|
0.00001
|
NM_001128178.3(NPHP1):c.1716+15T>C
|
rs368590150
|
0.00001
|
NM_001128178.3(NPHP1):c.192A>G (p.Gln64=)
|
rs772522565
|
0.00001
|
NM_001128178.3(NPHP1):c.240G>A (p.Gln80=)
|
rs767719020
|
0.00001
|
NM_001128178.3(NPHP1):c.288G>T (p.Leu96=)
|
rs758059337
|
0.00001
|
NM_001128178.3(NPHP1):c.345T>A (p.Thr115=)
|
rs998559099
|
0.00001
|
NM_001128178.3(NPHP1):c.456A>G (p.Ser152=)
|
rs143163969
|
0.00001
|
NM_001128178.3(NPHP1):c.474C>T (p.Ile158=)
|
rs1253817401
|
0.00001
|
NM_001128178.3(NPHP1):c.522+11T>G
|
rs374090144
|
0.00001
|
NM_001128178.3(NPHP1):c.651A>G (p.Gln217=)
|
rs201107818
|
0.00001
|
NM_001128178.3(NPHP1):c.693G>A (p.Val231=)
|
rs746229585
|
0.00001
|
NM_001128178.3(NPHP1):c.729-19T>C
|
rs374563008
|
0.00001
|
NM_001128178.3(NPHP1):c.771+175T>C
|
rs905647921
|
0.00001
|
NM_001128178.3(NPHP1):c.771+18T>A
|
rs1446639138
|
0.00001
|
NM_001128178.3(NPHP1):c.771+3G>A
|
rs1365022834
|
0.00001
|
NM_001128178.3(NPHP1):c.771+78G>A
|
rs762350912
|
0.00001
|
NM_001128178.3(NPHP1):c.771+90T>C
|
rs145349438
|
0.00001
|
NM_001128178.3(NPHP1):c.783T>G (p.Thr261=)
|
rs148014935
|
0.00001
|
NM_001128178.3(NPHP1):c.963G>A (p.Ser321=)
|
rs533125951
|
0.00001
|
NC_000002.11:g.(?_110922097)_(110962545_?)dup
|
|
|
NM_000272.3:c.205-?_*455+?dup
|
|
|
NM_001128178.3(NPHP1):c.1005T>C (p.Cys335=)
|
|
|
NM_001128178.3(NPHP1):c.1023A>G (p.Pro341=)
|
|
|
NM_001128178.3(NPHP1):c.1059C>T (p.Arg353=)
|
|
|
NM_001128178.3(NPHP1):c.1066C>T (p.Leu356=)
|
|
|
NM_001128178.3(NPHP1):c.1083+11T>A
|
|
|
NM_001128178.3(NPHP1):c.1083+11T>C
|
|
|
NM_001128178.3(NPHP1):c.1083+12G>A
|
|
|
NM_001128178.3(NPHP1):c.111A>G (p.Leu37=)
|
rs2104714862
|
|
NM_001128178.3(NPHP1):c.1159-18dup
|
|
|
NM_001128178.3(NPHP1):c.1159-20T>C
|
rs990050723
|
|
NM_001128178.3(NPHP1):c.1159-8C>A
|
|
|
NM_001128178.3(NPHP1):c.1164T>C (p.Thr388=)
|
|
|
NM_001128178.3(NPHP1):c.1170C>A (p.Ile390=)
|
|
|
NM_001128178.3(NPHP1):c.1173A>G (p.Leu391=)
|
|
|
NM_001128178.3(NPHP1):c.1176A>G (p.Pro392=)
|
rs2104497160
|
|
NM_001128178.3(NPHP1):c.117C>T (p.Pro39=)
|
|
|
NM_001128178.3(NPHP1):c.1197C>T (p.Cys399=)
|
|
|
NM_001128178.3(NPHP1):c.1251A>G (p.Gly417=)
|
|
|
NM_001128178.3(NPHP1):c.1269+15A>G
|
|
|
NM_001128178.3(NPHP1):c.1269+9G>C
|
rs13414551
|
|
NM_001128178.3(NPHP1):c.1269+9G>T
|
|
|
NM_001128178.3(NPHP1):c.1270-12C>G
|
|
|
NM_001128178.3(NPHP1):c.1270-12C>T
|
rs772635725
|
|
NM_001128178.3(NPHP1):c.1270-14G>T
|
|
|
NM_001128178.3(NPHP1):c.1270-19T>C
|
|
|
NM_001128178.3(NPHP1):c.1308G>A (p.Val436=)
|
|
|
NM_001128178.3(NPHP1):c.1314T>C (p.Leu438=)
|
|
|
NM_001128178.3(NPHP1):c.1320T>G (p.Leu440=)
|
|
|
NM_001128178.3(NPHP1):c.1332T>C (p.Ser444=)
|
|
|
NM_001128178.3(NPHP1):c.1352+12A>G
|
|
|
NM_001128178.3(NPHP1):c.1352+14A>G
|
|
|
NM_001128178.3(NPHP1):c.1352+16A>G
|
|
|
NM_001128178.3(NPHP1):c.1352+17T>C
|
|
|
NM_001128178.3(NPHP1):c.1353-12A>G
|
|
|
NM_001128178.3(NPHP1):c.1353-16T>C
|
|
|
NM_001128178.3(NPHP1):c.1353-20T>A
|
|
|
NM_001128178.3(NPHP1):c.1353-4A>C
|
|
|
NM_001128178.3(NPHP1):c.1353-8T>G
|
|
|
NM_001128178.3(NPHP1):c.1359T>C (p.Tyr453=)
|
rs756580864
|
|
NM_001128178.3(NPHP1):c.1362G>A (p.Glu454=)
|
rs2104483951
|
|
NM_001128178.3(NPHP1):c.1374T>C (p.Asn458=)
|
|
|
NM_001128178.3(NPHP1):c.1386T>A (p.Pro462=)
|
|
|
NM_001128178.3(NPHP1):c.1389T>C (p.Tyr463=)
|
|
|
NM_001128178.3(NPHP1):c.1398T>C (p.Gly466=)
|
|
|
NM_001128178.3(NPHP1):c.1407G>A (p.Val469=)
|
rs1284022173
|
|
NM_001128178.3(NPHP1):c.141A>G (p.Gln47=)
|
|
|
NM_001128178.3(NPHP1):c.1429+14G>A
|
|
|
NM_001128178.3(NPHP1):c.1429+16_1429+20del
|
|
|
NM_001128178.3(NPHP1):c.1429+9C>T
|
|
|
NM_001128178.3(NPHP1):c.143+15A>G
|
|
|
NM_001128178.3(NPHP1):c.143+19T>C
|
|
|
NM_001128178.3(NPHP1):c.143+20A>G
|
|
|
NM_001128178.3(NPHP1):c.143+7T>C
|
|
|
NM_001128178.3(NPHP1):c.143+7T>G
|
|
|
NM_001128178.3(NPHP1):c.1430-15G>T
|
|
|
NM_001128178.3(NPHP1):c.1430-20C>G
|
rs760121969
|
|
NM_001128178.3(NPHP1):c.1430-20del
|
|
|
NM_001128178.3(NPHP1):c.1430-5A>G
|
|
|
NM_001128178.3(NPHP1):c.1430-8C>G
|
rs750113370
|
|
NM_001128178.3(NPHP1):c.144-11T>C
|
|
|
NM_001128178.3(NPHP1):c.144-11T>G
|
rs1448732187
|
|
NM_001128178.3(NPHP1):c.144-8T>C
|
|
|
NM_001128178.3(NPHP1):c.1485A>G (p.Leu495=)
|
rs746027698
|
|
NM_001128178.3(NPHP1):c.1488G>C (p.Val496=)
|
|
|
NM_001128178.3(NPHP1):c.1492C>T (p.Leu498=)
|
|
|
NM_001128178.3(NPHP1):c.1503G>A (p.Leu501=)
|
|
|
NM_001128178.3(NPHP1):c.1527A>G (p.Leu509=)
|
|
|
NM_001128178.3(NPHP1):c.1529+13T>A
|
|
|
NM_001128178.3(NPHP1):c.1529+16T>C
|
|
|
NM_001128178.3(NPHP1):c.1530-10del
|
rs779032904
|
|
NM_001128178.3(NPHP1):c.1530-20A>G
|
rs773398593
|
|
NM_001128178.3(NPHP1):c.1530-4del
|
rs757295724
|
|
NM_001128178.3(NPHP1):c.1536G>C (p.Leu512=)
|
|
|
NM_001128178.3(NPHP1):c.1548A>G (p.Leu516=)
|
|
|
NM_001128178.3(NPHP1):c.1569T>C (p.Ile523=)
|
|
|
NM_001128178.3(NPHP1):c.1605T>C (p.Asp535=)
|
|
|
NM_001128178.3(NPHP1):c.1623G>A (p.Arg541=)
|
|
|
NM_001128178.3(NPHP1):c.162G>A (p.Gln54=)
|
|
|
NM_001128178.3(NPHP1):c.1630T>C (p.Leu544=)
|
|
|
NM_001128178.3(NPHP1):c.1638T>C (p.Ser546=)
|
|
|
NM_001128178.3(NPHP1):c.1642+10C>T
|
|
|
NM_001128178.3(NPHP1):c.1642+8G>T
|
|
|
NM_001128178.3(NPHP1):c.1642+9G>A
|
|
|
NM_001128178.3(NPHP1):c.1642+9G>C
|
|
|
NM_001128178.3(NPHP1):c.1643-14G>A
|
|
|
NM_001128178.3(NPHP1):c.1643-7A>T
|
|
|
NM_001128178.3(NPHP1):c.1643-8C>T
|
|
|
NM_001128178.3(NPHP1):c.1643-9G>T
|
|
|
NM_001128178.3(NPHP1):c.1647A>G (p.Leu549=)
|
|
|
NM_001128178.3(NPHP1):c.1659C>T (p.Pro553=)
|
|
|
NM_001128178.3(NPHP1):c.1671C>T (p.Thr557=)
|
rs2104428797
|
|
NM_001128178.3(NPHP1):c.1677C>T (p.Pro559=)
|
|
|
NM_001128178.3(NPHP1):c.1689G>A (p.Glu563=)
|
|
|
NM_001128178.3(NPHP1):c.1695T>C (p.Pro565=)
|
|
|
NM_001128178.3(NPHP1):c.1716+10A>G
|
|
|
NM_001128178.3(NPHP1):c.1716+12G>T
|
|
|
NM_001128178.3(NPHP1):c.1716+17G>A
|
|
|
NM_001128178.3(NPHP1):c.1716+18C>T
|
|
|
NM_001128178.3(NPHP1):c.1716+20A>G
|
|
|
NM_001128178.3(NPHP1):c.1717-12T>C
|
|
|
NM_001128178.3(NPHP1):c.1717-6C>T
|
|
|
NM_001128178.3(NPHP1):c.1717-8C>T
|
|
|
NM_001128178.3(NPHP1):c.1722G>T (p.Ser574=)
|
|
|
NM_001128178.3(NPHP1):c.1734A>G (p.Lys578=)
|
|
|
NM_001128178.3(NPHP1):c.1755A>C (p.Ser585=)
|
|
|
NM_001128178.3(NPHP1):c.1761+14C>T
|
|
|
NM_001128178.3(NPHP1):c.1761+15T>C
|
|
|
NM_001128178.3(NPHP1):c.1761+19C>T
|
|
|
NM_001128178.3(NPHP1):c.1761+20A>G
|
|
|
NM_001128178.3(NPHP1):c.1761+7T>C
|
|
|
NM_001128178.3(NPHP1):c.1762-12G>A
|
|
|
NM_001128178.3(NPHP1):c.1762-12G>C
|
|
|
NM_001128178.3(NPHP1):c.1762-15G>A
|
rs1023737876
|
|
NM_001128178.3(NPHP1):c.1762-19G>T
|
|
|
NM_001128178.3(NPHP1):c.1764A>G (p.Arg588=)
|
|
|
NM_001128178.3(NPHP1):c.1773G>A (p.Glu591=)
|
|
|
NM_001128178.3(NPHP1):c.1788G>A (p.Thr596=)
|
|
|
NM_001128178.3(NPHP1):c.1788G>T (p.Thr596=)
|
|
|
NM_001128178.3(NPHP1):c.1806T>C (p.His602=)
|
|
|
NM_001128178.3(NPHP1):c.1827C>T (p.Leu609=)
|
|
|
NM_001128178.3(NPHP1):c.1839C>T (p.Arg613=)
|
|
|
NM_001128178.3(NPHP1):c.1842A>G (p.Leu614=)
|
|
|
NM_001128178.3(NPHP1):c.1845C>T (p.Pro615=)
|
rs1559039003
|
|
NM_001128178.3(NPHP1):c.1848A>C (p.Pro616=)
|
|
|
NM_001128178.3(NPHP1):c.1854G>A (p.Arg618=)
|
|
|
NM_001128178.3(NPHP1):c.1866A>G (p.Glu622=)
|
|
|
NM_001128178.3(NPHP1):c.186T>C (p.Ala62=)
|
|
|
NM_001128178.3(NPHP1):c.1881A>G (p.Ala627=)
|
rs1157663897
|
|
NM_001128178.3(NPHP1):c.1882C>A (p.Arg628=)
|
rs141686332
|
|
NM_001128178.3(NPHP1):c.1884G>A (p.Arg628=)
|
|
|
NM_001128178.3(NPHP1):c.1899T>C (p.Thr633=)
|
rs2104409055
|
|
NM_001128178.3(NPHP1):c.1923A>G (p.Glu641=)
|
|
|
NM_001128178.3(NPHP1):c.1926C>T (p.Asn642=)
|
|
|
NM_001128178.3(NPHP1):c.1929G>A (p.Gln643=)
|
rs1553479835
|
|
NM_001128178.3(NPHP1):c.1948C>T (p.Leu650=)
|
rs935465878
|
|
NM_001128178.3(NPHP1):c.1950G>A (p.Leu650=)
|
rs144850331
|
|
NM_001128178.3(NPHP1):c.1950G>C (p.Leu650=)
|
|
|
NM_001128178.3(NPHP1):c.1950G>T (p.Leu650=)
|
|
|
NM_001128178.3(NPHP1):c.1953A>T (p.Ser651=)
|
|
|
NM_001128178.3(NPHP1):c.1995C>T (p.Thr665=)
|
|
|
NM_001128178.3(NPHP1):c.1998T>C (p.Tyr666=)
|
|
|
NM_001128178.3(NPHP1):c.2017A>C (p.Arg673=)
|
|
|
NM_001128178.3(NPHP1):c.2031G>C (p.Val677=)
|
|
|
NM_001128178.3(NPHP1):c.204+13G>A
|
|
|
NM_001128178.3(NPHP1):c.204+13G>T
|
|
|
NM_001128178.3(NPHP1):c.205-12A>G
|
|
|
NM_001128178.3(NPHP1):c.205-4A>G
|
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|
NM_001128178.3(NPHP1):c.205-9C>T
|
rs765267939
|
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NM_001128178.3(NPHP1):c.213A>G (p.Glu71=)
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NM_001128178.3(NPHP1):c.231C>T (p.Asn77=)
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NM_001128178.3(NPHP1):c.255G>A (p.Glu85=)
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NM_001128178.3(NPHP1):c.261T>C (p.Thr87=)
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NM_001128178.3(NPHP1):c.279C>G (p.Thr93=)
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|
NM_001128178.3(NPHP1):c.285A>G (p.Gln95=)
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NM_001128178.3(NPHP1):c.286C>T (p.Leu96=)
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|
NM_001128178.3(NPHP1):c.288G>A (p.Leu96=)
|
rs758059337
|
|
NM_001128178.3(NPHP1):c.291G>A (p.Gln97=)
|
rs2104611813
|
|
NM_001128178.3(NPHP1):c.30C>G (p.Leu10=)
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|
NM_001128178.3(NPHP1):c.327T>C (p.Thr109=)
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NM_001128178.3(NPHP1):c.327T>G (p.Thr109=)
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NM_001128178.3(NPHP1):c.329+13T>G
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NM_001128178.3(NPHP1):c.329+17C>T
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NM_001128178.3(NPHP1):c.329+18C>T
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NM_001128178.3(NPHP1):c.329+19T>G
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NM_001128178.3(NPHP1):c.330-11A>G
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NM_001128178.3(NPHP1):c.330-20C>T
|
rs1296325944
|
|
NM_001128178.3(NPHP1):c.330-4G>T
|
rs774162169
|
|
NM_001128178.3(NPHP1):c.339A>T (p.Ala113=)
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|
NM_001128178.3(NPHP1):c.37C>T (p.Leu13=)
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NM_001128178.3(NPHP1):c.39G>A (p.Leu13=)
|
rs1553498753
|
|
NM_001128178.3(NPHP1):c.411G>A (p.Glu137=)
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NM_001128178.3(NPHP1):c.417A>G (p.Glu139=)
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NM_001128178.3(NPHP1):c.468A>G (p.Glu156=)
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|
NM_001128178.3(NPHP1):c.471C>T (p.Tyr157=)
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NM_001128178.3(NPHP1):c.477T>G (p.Ala159=)
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|
NM_001128178.3(NPHP1):c.492T>C (p.Thr164=)
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|
NM_001128178.3(NPHP1):c.522+11T>C
|
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NM_001128178.3(NPHP1):c.522+20_522+21del
|
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|
NM_001128178.3(NPHP1):c.522+8G>A
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NM_001128178.3(NPHP1):c.523-11T>C
|
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NM_001128178.3(NPHP1):c.523-13G>A
|
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|
NM_001128178.3(NPHP1):c.523-17C>T
|
rs2104573743
|
|
NM_001128178.3(NPHP1):c.523-18A>G
|
|
|
NM_001128178.3(NPHP1):c.528G>A (p.Gly176=)
|
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|
NM_001128178.3(NPHP1):c.528G>C (p.Gly176=)
|
rs1682883111
|
|
NM_001128178.3(NPHP1):c.561T>C (p.Asp187=)
|
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|
NM_001128178.3(NPHP1):c.582T>C (p.Asp194=)
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|
NM_001128178.3(NPHP1):c.591A>G (p.Gly197=)
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|
|
NM_001128178.3(NPHP1):c.594T>C (p.Asn198=)
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|
NM_001128178.3(NPHP1):c.606T>C (p.Val202=)
|
|
|
NM_001128178.3(NPHP1):c.624+10G>A
|
|
|
NM_001128178.3(NPHP1):c.624+11del
|
rs763000358
|
|
NM_001128178.3(NPHP1):c.624+14T>A
|
|
|
NM_001128178.3(NPHP1):c.624+17G>T
|
|
|
NM_001128178.3(NPHP1):c.624+18C>G
|
|
|
NM_001128178.3(NPHP1):c.625-8T>C
|
|
|
NM_001128178.3(NPHP1):c.639A>G (p.Glu213=)
|
|
|
NM_001128178.3(NPHP1):c.669C>A (p.Gly223=)
|
|
|
NM_001128178.3(NPHP1):c.684A>G (p.Val228=)
|
rs138705625
|
|
NM_001128178.3(NPHP1):c.69+11G>A
|
|
|
NM_001128178.3(NPHP1):c.69+14G>A
|
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|
NM_001128178.3(NPHP1):c.69+15T>C
|
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|
NM_001128178.3(NPHP1):c.69+18del
|
|
|
NM_001128178.3(NPHP1):c.69+7T>C
|
|
|
NM_001128178.3(NPHP1):c.70-8C>T
|
rs370573707
|
|
NM_001128178.3(NPHP1):c.70-9T>C
|
|
|
NM_001128178.3(NPHP1):c.714A>G (p.Ala238=)
|
|
|
NM_001128178.3(NPHP1):c.720T>C (p.Val240=)
|
|
|
NM_001128178.3(NPHP1):c.720T>G (p.Val240=)
|
|
|
NM_001128178.3(NPHP1):c.728+17G>A
|
|
|
NM_001128178.3(NPHP1):c.728+8del
|
rs863224357
|
|
NM_001128178.3(NPHP1):c.728+9G>A
|
rs1280756117
|
|
NM_001128178.3(NPHP1):c.728+9G>C
|
|
|
NM_001128178.3(NPHP1):c.729-4C>G
|
rs1682596294
|
|
NM_001128178.3(NPHP1):c.735T>C (p.Asp245=)
|
|
|
NM_001128178.3(NPHP1):c.771+102A>T
|
|
|
NM_001128178.3(NPHP1):c.771+108C>T
|
|
|
NM_001128178.3(NPHP1):c.771+111G>A
|
rs2104559507
|
|
NM_001128178.3(NPHP1):c.771+145C>T
|
|
|
NM_001128178.3(NPHP1):c.771+178C>G
|
|
|
NM_001128178.3(NPHP1):c.771+178C>T
|
rs767903893
|
|
NM_001128178.3(NPHP1):c.771+180C>T
|
|
|
NM_001128178.3(NPHP1):c.771+182T>G
|
|
|
NM_001128178.3(NPHP1):c.771+185_771+186insA
|
rs1682570213
|
|
NM_001128178.3(NPHP1):c.771+186T>C
|
|
|
NM_001128178.3(NPHP1):c.771+187_771+188insG
|
|
|
NM_001128178.3(NPHP1):c.771+188T>G
|
rs2104558917
|
|
NM_001128178.3(NPHP1):c.771+24T>C
|
|
|
NM_001128178.3(NPHP1):c.771+27T>C
|
|
|
NM_001128178.3(NPHP1):c.771+3G>T
|
|
|
NM_001128178.3(NPHP1):c.771+54G>A
|
|
|
NM_001128178.3(NPHP1):c.771+58C>A
|
rs367600757
|
|
NM_001128178.3(NPHP1):c.771+66G>A
|
|
|
NM_001128178.3(NPHP1):c.772-5T>C
|
rs201478764
|
|
NM_001128178.3(NPHP1):c.772-8G>A
|
|
|
NM_001128178.3(NPHP1):c.780C>T (p.Asn260=)
|
|
|
NM_001128178.3(NPHP1):c.789T>C (p.Asp263=)
|
|
|
NM_001128178.3(NPHP1):c.792G>A (p.Val264=)
|
|
|
NM_001128178.3(NPHP1):c.822G>T (p.Gly274=)
|
|
|
NM_001128178.3(NPHP1):c.834C>T (p.Ser278=)
|
|
|
NM_001128178.3(NPHP1):c.837G>A (p.Thr279=)
|
|
|
NM_001128178.3(NPHP1):c.840C>T (p.Leu280=)
|
|
|
NM_001128178.3(NPHP1):c.843A>G (p.Ser281=)
|
|
|
NM_001128178.3(NPHP1):c.859+7C>T
|
|
|
NM_001128178.3(NPHP1):c.859+8G>A
|
rs765856771
|
|
NM_001128178.3(NPHP1):c.859+8G>C
|
rs765856771
|
|
NM_001128178.3(NPHP1):c.860-11G>T
|
|
|
NM_001128178.3(NPHP1):c.860-12T>C
|
rs1326341540
|
|
NM_001128178.3(NPHP1):c.860-19G>A
|
|
|
NM_001128178.3(NPHP1):c.882C>T (p.Tyr294=)
|
rs369977541
|
|
NM_001128178.3(NPHP1):c.894A>G (p.Pro298=)
|
|
|
NM_001128178.3(NPHP1):c.897G>A (p.Glu299=)
|
rs1277227397
|
|
NM_001128178.3(NPHP1):c.900C>T (p.Leu300=)
|
|
|
NM_001128178.3(NPHP1):c.90G>A (p.Glu30=)
|
|
|
NM_001128178.3(NPHP1):c.924A>G (p.Arg308=)
|
|
|
NM_001128178.3(NPHP1):c.942T>G (p.Ala314=)
|
|
|
NM_001128178.3(NPHP1):c.954+11T>A
|
|
|
NM_001128178.3(NPHP1):c.954+11T>G
|
|
|
NM_001128178.3(NPHP1):c.954+16A>G
|
|
|
NM_001128178.3(NPHP1):c.954+17T>A
|
|
|
NM_001128178.3(NPHP1):c.954+17T>G
|
|
|
NM_001128178.3(NPHP1):c.955-12T>C
|
|
|
NM_001128178.3(NPHP1):c.955-14A>G
|
|
|
NM_001128178.3(NPHP1):c.955-15T>C
|
|
|
NM_001128178.3(NPHP1):c.955-15T>G
|
|
|
NM_001128178.3(NPHP1):c.960G>A (p.Arg320=)
|
|
|
NM_001128178.3(NPHP1):c.97C>T (p.Leu33=)
|
|
|
NM_001128178.3(NPHP1):c.993A>G (p.Thr331=)
|
|
|
NM_001128178.3(NPHP1):c.994T>C (p.Leu332=)
|
|
|
NM_001128178.3(NPHP1):c.996A>G (p.Leu332=)
|
|
|
NM_001128178.3(NPHP1):c.9G>T (p.Ala3=)
|
|
|